Canonical Allele Identifier: CA2525725970

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877437_43877438insATTCCCAT , CM000664.2:g.43877437_43877438insATTCCCAT	GRCh38
NC_000002.11:g.44104576_44104577insATTCCCAT , CM000664.1:g.44104576_44104577insATTCCCAT	GRCh37
NC_000002.10:g.43958080_43958081insATTCCCAT	NCBI36
NG_008884.1:g.43474_43475insATTCCCAT
NG_008884.2:g.50496_50497insATTCCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-124_1757-123insATTCCCAT MANE Select	ENSP00000272286.2:n.1757-124_1757-123insATTCCCAT
ENST00000272286.2:c.1757-124_1757-123insATTCCCAT	ENSP00000272286.2:n.1757-124_1757-123insATTCCCAT
NM_022437.2:c.1757-124_1757-123insATTCCCAT	NP_071882.1:n.1757-124_1757-123insATTCCCAT
XM_005264483.2:c.1754-124_1754-123insATTCCCAT	XP_005264540.1:n.1754-124_1754-123insATTCCCAT
XM_011533029.1:c.1769-124_1769-123insATTCCCAT	XP_011531331.1:n.1769-124_1769-123insATTCCCAT
XM_011533030.1:c.1766-124_1766-123insATTCCCAT	XP_011531332.1:n.1766-124_1766-123insATTCCCAT
XM_011533031.1:c.1541-124_1541-123insATTCCCAT	XP_011531333.1:n.1541-124_1541-123insATTCCCAT
XR_939707.1:n.2259-124_2259-123insATTCCCAT
NM_001357321.1:c.1754-124_1754-123insATTCCCAT	NP_001344250.1:n.1754-124_1754-123insATTCCCAT
XM_011533029.2:c.1769-124_1769-123insATTCCCAT	XP_011531331.1:n.1769-124_1769-123insATTCCCAT
XM_011533030.2:c.1766-124_1766-123insATTCCCAT	XP_011531332.1:n.1766-124_1766-123insATTCCCAT
XR_001738891.1:n.2273-124_2273-123insATTCCCAT
XR_939707.2:n.2273-124_2273-123insATTCCCAT
NM_022437.3:c.1757-124_1757-123insATTCCCAT MANE Select	NP_071882.1:n.1757-124_1757-123insATTCCCAT
NM_001357321.2:c.1754-124_1754-123insATTCCCAT	NP_001344250.1:n.1754-124_1754-123insATTCCCAT